With 2013 nearly behind us, let’s take a look at the stories that were the most popular with our readers. By far, the most-read blog posts were those focusing on genetics and genetic testing. And we wrote quite a bit about that topic on the Hayes blog this year.
Angelina Jolie brought media attention to genetic testing earlier in the year with her revelation that as a BRCA1 carrier, she had undergone a bilateral prophylactic mastectomy. Jolie’s revelations provided a good opportunity to reflect on testing for variants in the 2 major genes associated with familial breast and ovarian cancer, BRCA1 and BRCA2, and the impact such testing can have on patient outcomes in our post, Saving Lives Through Genetic Testing and Surgery. Among the largely unregulated and unproven landscape of genetic testing, BRCA1 and BRCA2 testing offers a clear example of the potential of genetic testing to save lives.
However, Hayes believes that the current system of oversight of genetic testing is insufficient to ensure the safe and appropriate use of genetic tests in patient care, especially with regard to laboratory developed tests marketed directly to consumers. We were pleased in November 2013 when the FDA made a decisive move to ensure patient safety and understanding in the area of direct-to-consumer genetic testing by ordering testing company 23andMe to immediately stop marketing the company’s Personal Genome Service until the FDA authorizes the use of the test as a medical device. In our analysis of the issue, we asserted our position that only medical technologies supported by a strong evidence base should be used and that medical tests should only be used under the careful guidance of your healthcare professional. We anticipate further guidance from the FDA regarding all types of genetic testing in 2014.
The gene patenting debate made headlines in 2013, when the U.S. Supreme Court wrestled with the question of whether or not human genes are patentable. At Hayes we believe that genes are products of nature and therefore should never have been subject to patenting in the first place. Thus, we were quite pleased when the Supreme Court ruled unanimously that human genes are not patentable. This ruling is a significant milestone in the 30-year gene patenting story and one that most patent opponents would claim as a victory for ensuring access to genetic testing and improving patient outcomes. In case you missed it when it was originally posted, read our analysis of the Supreme Court decision here.
Another well-read story was our post about HeLa cells, the first human cell line to be established in culture. Research using Henrietta Lack’s cells led Jonas Salk to develop the vaccine against the polio virus, a scientific discovery that had a major impact on public health around the world. But use of these cells without Henrietta’s permission also had unintended consequences that the doctors involved in Lack’s care probably never imagined.
And speaking of unintended consequences, an increasing number of individuals who undergo genetic screening for one particular condition are finding out that they also carry genetic variants that predispose them to a different disorder for which they currently have no symptoms. These so-called patients-in-waiting may or may not ever develop the condition but as a result of these incidental findings they live their lives in a kind of medical limbo, wondering if or when the disease will develop. In addition, doctors are often unsure whether starting treatment will stop or delay the disease’s onset. We expect situations such as these to increase as genetic testing technology rushes headlong towards the use of whole exome or whole genome sequencing for clinical purposes.
As we’ve discussed on this blog, genetic and genomic tests are complex, and the number of diseases and conditions for which testing is available grows each year. As more and more patients seek information about their genetic make-up, it will become even more challenging for providers to determine when to use the right genetic test for the right patients at the right cost. Look for continued debate and media attention on this topic in 2014. And look to Hayes to provide an unbiased perspective on the issue.